Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a recently described genetic disease characterized by recurrent subcortical infarcts and dementia. Based on linkage analysis its gene has been assigned to chromosome 19p13. We report an Australian kindred with typical clinical features of CADASIL, the diagnosis being supported by linkage analysis. No expansion was detected on repeat expansion detection (RED) testing.

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http://dx.doi.org/10.1016/s0967-5868(97)90070-9DOI Listing

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